We are proud to partner with clinicians, scientists and the Natural History Study to increase the research for Rett syndrome.

Publications Acknowledging Rettsyndome.org Research Grants and Funding

The role of MeCP2 in learning and memory.
Robinson HA, Pozzo-Miller L.
Learn Mem. 2019 Aug 15;26(9):343-350. doi: 10.1101/lm.048876.118. Print 2019 Sep.
PMID: 31416907


Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.
Krishnaraj R, Haase F, Coorey B, Luca EJ, Wong I, Boyling A, Ellaway C, Christodoulou J, Gold WA.
Hum Mutat. 2019 Aug 5. doi: 10.1002/humu.23887. [Epub ahead of print] Review.
PMID: 31379106


DNA Methylation Contributes to the Differential Expression Levels of Mecp2 in Male Mice Neurons and Astrocytes.
Liyanage VRB, Olson CO, Zachariah RM, Davie JR, Rastegar M.
Int J Mol Sci. 2019 Apr 14;20(8). pii: E1845. doi: 10.3390/ijms20081845.
PMID: 31013990


Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders
Wendy Drobnyk, Karen Rocco, Sara Davidson, Susan Bruce, Fang Zhang, Stephen B Soumerai
First Published August 26, 2019.HTTPS://DOI.ORG/10.1177/1179556519871952


Exosomes regulate neurogenesis and circuit assembly
Pranav Sharma, Pinar Mesci, Cassiano Carromeu, Daniel R. McClatchy, Lucio Schiapparelli, John R. Yates III, Alysson R. Muotri, and Hollis T. Cline
Proc Natl Acad Sci USA. 2019 Jul 18. pii: 201902513. doi: 10.1073/pnas.1902513116.
PMID: 31320591


Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE.
Brain. 2019 Jan 12.
PMID: 30649225


Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome.
Müller M.
Neurosci Biobehav Rev. 2019 Jan 9.
PMID: 30639673


Spoken word processing in Rett syndrome: Evidence from event-related potentials.
Key AP, Jones D, Peters S.
Int J Dev Neurosci. 2019 Jan 7
PMID: 30630072

MECP2 Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.
Olson CO, Pejhan S, Kroft D, Sheikholeslami K, Fuss D, Buist M, Ali Sher A, Del Bigio MR, Sztainberg Y, Siu VM, Ang LC, Sabourin-Felix M, Moss T, Rastegar M.
Front Genet. 2018 Dec.
PMID: 30619462


Impaired Visual Search in Children with Rett Syndrome
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.
Pediatr Neurol. 2018 Oct 18.
PMID: 30573328


Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders
Fisher NM, Seto M, Lindsley CW, Niswender CM.
Front Mol Neurosci. 2018 Oct 23;11:387. doi: 10.3389/fnmol.2018.00387. eCollection 2018. Review.
PMID: 30405350


Loss of MeCP2 in immature neurons leads to impaired network integration.
Sun Y, Gao Y, Tidei JJ, Shen M, Hoang JT, Wagner D, Zhao X.
Hum Mol Genet. 2018 Oct 1. doi: 10.1093/hmg/ddy338.
PMID: 30277526


Loss of Mecp2 Causes Atypical Synaptic and Molecular Plasticity of Parvalbumin-Expressing Interneurons Reflecting Rett Syndrome-Like Sensorimotor Defects.
Morello N, Schina R, Pilotto F, Phillips M, Melani R, Plicato O, Pizzorusso T, Pozzo-Miller L, Giustetto M.
eNeuro. 2018 Sep 24;5(5). pii: ENEURO.0086-18.2018. doi: 10.1523/ENEURO.0086-18.2018. eCollection 2018 Sep-Oct
PMID: 30255129


Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.
Boban S, Leonard H, Wong K, Wilson A, Downs J.
Am J Med Genet A. 2018 Apr 28
PMID: 29704311


Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
O’Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Mayor Torres JM, Nelson CA 3rd, Sahin M.
Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. eCollection 2018 Mar.
PMID: 29560377


Total RNA-sequencing of Rett Syndrome Autopsy Samples Identifies the M4 Muscarinic Receptor as a Novel Therapeutic Target.
Gogliotti R, Fisher N, Stansley B, Jones C, Lindsley C, Conn J, Niswender C.
J Pharmacol Exp Ther. 2018 Mar 9.
PMID: 29523700


The feasibility of using actigraphy to characterize sleep in Rett syndrome.
Merbler AM, Byiers BJ, Garcia JJ, Feyma TJ, Symons FJ.
J Neurodev Disord. 2018 Feb 27;10(1):8.
PMID: 29482495


Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.
Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, de Klerk N, Leonard H.
Orphanet J Rare Dis. 2018 Jan 10;13(1):3. doi: 10.1186/s13023-017-0752-8.
PMID: 29321033

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.
Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA.
Intellect Dev Disabil. 2017 Dec;55(6):419-431. doi: 10.1352/1934-9556-55.6.419.
PMID:29194024


Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
Fisher NM, Gogliotti RG, Vermudez SAD, Stansley BJ, Conn PJ, Niswender CM
ACS Chem Neurosci. 2017 Dec 14. doi: 10.1021/acschemneuro.7b00414. [Epub ahead of print]
PMID: 29227625


Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.
Johnson BS, Zhao YT, Fasolino M, Lamonica JM, Kim YJ, Georgakilas G, Wood KH, Bu D, Cui Y, Goffin D, Vahedi G, Kim TH, Zhou Z.
Nat Med. 2017 Sep 18.
PMID: 28920956


A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome.
Glaze DG, Neul JL, Percy A, Feyma T, Beisang A, Yaroshinsky A, Stoms G, Zuchero D, Horrigan J, Glass L, Jones NE.
Pediatr Neurol. 2017 Jul 8. pii: S0887-8994(17)30405-8. doi: 10.1016/j.pediatrneurol.2017.07.002. [Epub ahead of print]
PMID: 28964591


Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing.
Sarika UP, Ashley K, Dorita J, Alexandra PK
Brain Res. 2017 Sep 1
PMID: 28870827


Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.
Dy ME, Waugh JL, Sharma N, O’Leary H, Kapur K, D’Gama AM, Sahin M, Urion DK, Kaufmann WE
Pediatr Neurol. 2017 Jun 2. pii: S0887-8994(17)30406-X. doi: 10.1016/j.pediatrneurol.2017.05.025. [Epub ahead of print]
PMID: 28838622


mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome.
Gogliotti RG, Senter RK, Fisher NM, Adams J, Zamorano R, Walker AG, Blobaum AL, Engers DW, Hopkins CR, Daniels JS, Jones CK, Lindsley CW, Xiang Z, Conn PJ, Niswender CM.
Sci Transl Med. 2017 Aug 16;9(403). pii: eaai7459. doi: 10.1126/scitranslmed.aai7459.
PMID: 28814546


A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice.
Li W, Bellot-Saez A, Phillips ML, Yang T, Longo FM, Pozzo-Miller L.
Dis Model Mech. 2017 Jul 1;10(7):837-845
PMID: 28679669


Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders
Crystal T. Engineer, Seth A. Hays, and Michael P. Kilgard
Journal of Neurodevelopmental Disorders20179:20 DOI: 10.1186/s11689-017-9203-z


EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rettsyndrome mice.
Xu X, Pozzo-Miller L
J Physiol. 2017 Jun 16
PMID: 28621434


RettBASE: Rett Syndrome Database Update
Krishnaraj R, Ho G, Christodoulou J.
Hum Mutat. 2017 May 25.
PMID: 28544139


Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in aninternational database study.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H.
J Neurodev Disord. 2017 Apr 28;9:15. doi:
10.1186/s11689-017-9196-7. eCollection 2017.
PMID: 28465761


Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-likephenotypes.
Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S, Zhou Z.
J Clin Invest. 2017 May 1;127(5):1889-1904. doi: 10.1172/JCI90967. Epub 2017 Apr 10.
PMID: 28394263


Sustainedattention in the face of distractors: A study of children with Rett syndrome.
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.
Neuropsychology. 2017 May;31(4):403-410. doi:
10.1037/neu0000369. Epub 2017 Apr 6.
PMID: 28383972


Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
PMID: 28347601


Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.
Shapiro JR, Boskey AL, Doty SB, Lukashova L, Blue ME. Bone. 2017 Jun;99:1-7. doi: 10.1016/j.bone.2017.03.040. Epub 2017 Mar 18.
PMID: 28323142
Similararticles


Quantification of walking-based physical activity and sedentary time in individuals with Rettsyndrome.
Downs J, Leonard H, Wong K, Newton N, Hill K.
Dev Med Child Neurol. 2017 Jun;59(6):605-611. doi: 10.1111/dmcn.13398. Epub 2017 Feb 6.
PMID: 28164278


InfluenzaA induces dysfunctional immunity and death in MeCP2-overexpressing mice.
Cronk JC, Herz J, Kim TS, Louveau A, Moser EK, Sharma AK, Smirnov I, Tung KS, Braciale TJ, Kipnis J.
JCI Insight. 2017 Jan 26;2(2):e88257. doi: 10.1172/jci.insight.88257.
PMID: 28138553


MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice.
Krishnan K, Lau BY, Ewall G, Huang ZJ, Shea SD.
Nat Commun. 2017 Jan 18;8:14077. doi: 10.1038/ncomms14077.
PMID: 28098153

Natural History Study Publications

Biliary Tract Disease in Girls and Young Women with Rett Syndrome.
Motil KJ, Lane JB, Barrish JO, Annese F, Geerts S, McNair L, Skinner SA, Neul JL, Glaze DG, Percy AK.
J Pediatr Gastroenterol Nutr. 2019 Jan 17
PMID:30664568

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.
Am J Med Genet B Neuropsychiatr Genet. 2018 Dec 7.
PMID: 30536762


Behavioral profiles in Rett syndrome: Data from the natural history study.
Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.
Brain Dev. 2018 Sep 11. pii: S0387-7604(18)30305-X. doi: 10.1016/j.braindev.2018.08.008. [Epub ahead of print]
PMID: 30217666


The course of awake breathing disturbances across the lifespan in Rett syndrome.
Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.
Brain Dev. 2018 Apr 12.
PMID: 29657083

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Pub 2017 Feb 7.
PMID: 28347601 [PubMed – in process]


Assessment of Caregiver Inventory for Rett Syndrome.
Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.
PMID: 28132121 [PubMed – in process]


Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females.
Zhong W, Johnson CM, Cui N, Xing H, Wu Y, Jiang C.
Neuropharmacology. 2017 Apr;116:288-299. doi: 10.1016/j.neuropharm.2017.01.002. Epub 2017 Jan 6.
PMID: 28069353 [PubMed – in process]


Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.
Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.
PMID: 28007990 [PubMed – in process]


Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.
Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.
PMID: 27171548 [PubMed – in process] Free PMC Article


Detecting autonomic response to pain in Rett syndrome.
O’Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE.
Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12.
PMID: 26457613 [PubMed – indexed for MEDLINE]


Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
PMID: 28347601


Assessment of Caregiver Inventory for Rett Syndrome.
Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.
PMID: 28132121

Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.
Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.
PMID: 28007990


Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.
Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.
PMID: 27171548

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.
J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

Growth failure and outcome in Rett syndrome: specific growth references.
Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK.
Neurology. 2012 Oct 16;79(16):1653-61.


Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.
Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, Neul JL, Glaze DG.
J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8.

Clinical severity and quality of life in children and adolescents with Rett syndrome.
Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP.
Neurology. 2011 Nov 15;77(20):1812-8.


Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG.
J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74.

Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.
Ann Neurol. 2010 Dec;68(6):944-50.


Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.
Ann Neurol. 2010 Dec;68(6):951-5.


Profiling scoliosis in Rett syndrome.
Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG.
Pediatr Res. 2010 Apr;67(4):435-9.


Epilepsy and the natural history of Rett syndrome.
Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS.
Neurology. 2010 Mar 16;74(11):909-12.


Longevity in Rett syndrome: analysis of the North American Database.
Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.
J Pediatr. 2010 Jan;156(1):135-138.

Gastrostomy placement improves height and weight gain in girls with Rett syndrome.
Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.
J Pediatr Gastroenterol Nutr. 2009 Aug;49(2):237-42.

Rett syndrome: recent research progress.
Percy AK.
J Child Neurol. 2008 May;23(5):543-9.


Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG.
Neurology. 2008 Apr 15;70(16):1313-21.

Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.
J Child Neurol. 2007 Dec;22(12):1338-41.